Dyskeratosis Congenita With Corneal Limbal Insufficiency
PEDIATRIC BLOOD & CANCER, cilt.53, sa.1, ss.95-97, 2009 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 53 Sayı: 1
- Basım Tarihi: 2009
- Doi Numarası: 10.1002/pbc.21960
- Dergi Adı: PEDIATRIC BLOOD & CANCER
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.95-97
- Anahtar Kelimeler: dyskeratosis congenita, limbal insufficiency, stem cell, telomere length, MARROW FAILURE SYNDROMES, STEM-CELLS, TELOMERE MAINTENANCE, BLOOM-SYNDROME, DISORDER
- Gazi Üniversitesi Adresli: Evet
Özet
We describe a newly diagnosed Turkish adolescent female with Dyskeratosis congenita along with the novel ocular finding of corneal limbal insufficiency. Corneal limbal insufficiency was suggested to be a premature aging sign resulting from a deficiency in corneal stein cell activity, a biological process caused by underlying telomeric defect in this disease. Pediatr Blood Cancer 2009;53:95-97. (C) 2()09 Wiley-Liss, Inc.